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List of works by Antonella Carsana

A 15-year case-mix experience for fragile X syndrome molecular diagnosis and comparison between conventional and alternative techniques leading to a novel diagnostic procedure.

scientific article published on 29 December 2012

Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations

article

Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals.

scientific article published on 20 September 2016

Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular Dystrophies

scientific article published on 05 December 2019

Molecular analysis of Duchenne/Becker muscular dystrophy

scientific article published in January 2010

Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene

scientific article

Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy.

scientific article published in December 2013

RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families.

scientific article published on 21 April 2019

Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing.

scientific article published on 20 November 2017

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